First Trimester Screen / NT Scan

gerbies

I know there's been a lot of posts about the first trimester screen. I wanted to post what I heard today on mine to get some thoughts. I am 40, so the odds of a baby with a chromosomal issue (particularly Downs Syndrome) is 1:100...based on my age alone! Today, I had my ultrasound and confirmed the baby is measuring on time (13 weeks). They also confirmed the presence of a nasal bone. My nuchal translucency measurement (the highest of all that they took) was 1.7. These soft markers show as normal. Instead of the blood test that normally accompanies the ultrasound, I just took the fetal cell-free DNA test. I will not receive results until sometime next week.

Anyone aware of individuals who had some initial normal measurements and then later learned their baby had a chromosomal issue?

I know there are lots of false positives, but I am curious about he reverse?

VioletandRose

Yes. My boyfriend has a daughter from a previous marriage whose Down Syndrome was not detected until birth (she's now almost 6). At the time, her mother was 32. Her prenatal care & delivery was all at the University of Pennsylvania, so it was not an unprepared or uninformed institution. It was just a complete fluke that nothing was on the radar. She had several heart defects and needed to have open heart surgery as an infant, but is doing well now.

Knottie86476496

Gerbies I know the feel. I'm also 40 and this is my first. My initial results were good and I'm waiting for the finger prick result but want to talk to the doctor about some other tests on top of it.

In truth I'm not so worried about down syndrome but worries but some of the other chromosomal issues they test for. I feel this is my last chance to have a baby and would be crushed if my baby had a life threatening disease.

VioletandRose

Knottie86476496 said:

 In truth I'm not so worried about down syndrome but worries but some of the other chromosomal issues they test for. I feel this is my last chance to have a baby and would be crushed if my baby had a life threatening disease.

I feel the same way. I'm 35, so I know I'm pushing it. This is my first time being pregnant, but feel so discouraged due to my age and the amount of "risks" it involves. I could deal with a child with Downs, I know many and they are beyond amazing children and adults. I don't know if I could handle having a baby who is "incompatible with life," as my doctor puts it. I'm praying day and night that doesn't happen.

gerbies

I am glad I am not the only one. I have one little boy, but really wanted to add to our family. For us, any chromosomal issue (even Downs) would require my husband and I to make some tough choices. I am sending everyone good vibes!